title: Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis.
abstract: OBJECTIVE
  Endometriosis is recognized as an estrogen-dependent disease. There are conflicting data demonstrating single nuclear polymorphisms (SNPs) of CYP17 and CYP19 steroidogenic genes as related to endometriosis risk. We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 + C1558T (rs10046) SNPs in stage I-II endometriosis.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  Division of reproduction at a university department in Poland.
  
  
  METHODS
  A total of 115 women with diagnosed stage I-II endometriosis according to the revised American Society for Reproductive Medicine (rASRM) classification and 197 fertile women as controls.
  
  
  METHODS
  The SNPs CYP17 -34 A/G and CYP19 Ex10 + C1558T were identified by high-resolution melting curve analysis.
  
  
  METHODS
  Genotype prevalence and odds ratio for recessive and dominant genetic model for CYP17 and CYP19 SNPs.
  
  
  RESULTS
  We observed a significantly increased CYP17 GG and GA genotype frequency in women diagnosed with rASRM stage I-II endometriosis compared with fertile women (OR = 2.4; 95% CI 1.4-4.2, p = 0.002). We also found a significantly increased CYP17 G allele frequency in cases compared with controls (OR = 1.6; 95% CI 1.2-2.2, p = 0.004). There were no significant differences in the distribution of the CYP17 GG genotype and CYP19 Ex10 + C1558T polymorphism between women diagnosed with rASRM stage I-II endometriosis and controls.
  
  
  CONCLUSIONS
  The CYP17 -34 G variant, previously associated with increased 17β-estradiol production, displayed a contribution to stage I-II endometriosis in women from a Polish population. Increased 17β-estradiol concentration in carriers of the CYP17 -34 G variant might contribute to endometriosis and associated pathological processes.
authors.affiliation: Division of Reproduction, Department of Obstetrics, Gynecology and Gynecological Oncology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Szczepańska
authors.forename: Przemyslaw
authors.initials: P
authors.lastname: Wirstlein
authors.forename: Jana
authors.initials: J
authors.lastname: Skrzypczak
authors.forename: Paweł P
authors.initials: PP
authors.lastname: Jagodziński
mesh_terms: D000328:Adult; D001141:Aromatase / Q000235:genetics*; D016022:Case-Control Studies; D004715:Endometriosis / Q000150:complications / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics*; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012720:Severity of Illness Index; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D001141:Aromatase; D013254:Steroid 17-alpha-Hydroxylase
keywords: Polymorphisms; aromatase cytochrome P450; endometriosis; estrogen; genetic analysis; infertility